Diseases That Can Cause Dystonia

Dystonia is a complex neurological movement disorder that affects approximately 250,000 people in the United States. It can affect people of all ages, genders, and ethnicities. Dystonia is characterized by involuntary muscle contractions (uncontrolled or unwanted muscle movements). Please continue reading to learn more about some of the forms of dystonia, diseases that can cause dystonia and options for treating dystonia.

What is the root cause of dystonia?

Dystonia occurs due to a malfunction in the basal ganglia, a group of structures located deep in the base of the brain. The basal ganglia are involved in motor control (movement and coordination). They control the fluidity and speed of voluntary movements and prevent involuntary (unwanted) movements.

What are the symptoms of dystonia?

As mentioned, neurological disorders like dystonia occur due to a dysfunction in the basal ganglia. Dystonia symptoms are characterized by involuntary or unwanted movements, abnormal postures, and repetitive movements in different parts of the body, including the head, face, neck, vocal cords, limbs, and trunk.

You should make an appointment to see your healthcare provider if you have signs and symptoms such as:

Worsening handwriting
Foot cramps or foot-dragging
Involuntary and rapid blinking
Involuntary turning of the head and neck
Problems with speaking
Tremors

What are the different forms of dystonia?

Based on the patient’s age at the onset of dystonia symptoms, dystonia is called childhood-onset, adolescent-onset, and adult-onset dystonia.

Based on the body part affected, dystonia is classified as:

Focal dystonia

This affects one part of the body. For example, the involuntary muscle contractions may be limited to the eyes (blepharospasm), jaw and lower face (oromandibular dystonia), vocal cords (laryngeal dystonia), neck (cervical dystonia or spasmodic torticollis), or limbs (limb dystonia). Sometimes, focal dystonia affects only a specific action, for example, musician’s dystonia, which occurs while using a hand to play an instrument but not during other activities.

Segmental dystonia

Segmental dystonia affects multiple body parts located in proximity. For example, cranial dystonia affects the head, face, and neck. About one-third of people with focal dystonia have muscle spasms in adjacent areas near the primary site.

Multifocal dystonia

Multifocal dystonia affects two or more body parts located at a distance from each other.

Hemidystonia

This type of dystonia involves one side of the body.

Generalized dystonia

Generalized dystonia affects areas of the legs in the beginning and later spreads to the entire body.

What is the most common cause of dystonia?

The exact cause of dystonia is not known, but it is believed to be due to a miscommunication between different parts of the brain. Dystonia can be inherited (transmitted genetically), acquired (due to damage or degeneration of the brain structures), or idiopathic (no known cause and no structural damage seen in the brain).

What are the primary and secondary causes of dystonia?

Primary dystonias

In primary dystonia, also called an idiopathic dystonia, the only sign is involuntary muscle spasms. There is no known secondary cause. Primary dystonias usually begin during adulthood and are focal or segmental in nature. However, certain genetically linked primary dystonias have an early onset and have been identified in children and adolescents. Causes of primary dystonias include genetic mutations in the following genes:

DYT1: The symptoms of dystonia typically begin in an arm or leg and spread to other parts of the body. The average age at diagnosis of this early onset dystonia is 12 years, and it is uncommon after the 20s.
DYT3: This type of dystonia causes symptoms similar to Parkinson’s disease, such as slow movements, muscle stiffness, and tremor.
DYT6: This is a rare type of dystonia that has been traced in two Mennonite families in the US. Symptoms usually begin at one site and spread to multiple other parts of the body, usually involving the arms, legs, head, and neck, and difficulties with speech.
DYT2, DYT4, and DYT7: These primary dystonias have been discovered in specific ethnic groups of European heritage.
Segawa’s disease or dopa-responsive dystonia (DRD): Symptoms of dystonia typically start in childhood with progressive problems with walking that are worse with exercise and late in the day. These types of dystonia can be due to genetic mutations in the DYT5 gene. There is a dramatic improvement in dystonia symptoms after treatment with levodopa, a Parkinson’s medication.
ATP1A3: Mutations in this gene cause rapid onset dystonia Parkinsonism, in which dystonia symptoms appear quickly over a period of hours to days and cause difficulties with walking, talking, and daily activities.

Secondary dystonias

A dystonia is called a secondary dystonia or acquired dystonia when you develop dystonia due to a known underlying cause, such as:

Exposure to toxins such as cyanide, carbon monoxide, methanol, and manganese
Brain or spinal cord injuries
Underlying conditions involving the central nervous system, such as stroke, brain tumors, multiple sclerosis, Parkinson’s disease, or cerebral palsy
Medical conditions such as hypoparathyroidism and vascular malformations
Inflammatory or infectious conditions such as streptococcal infections, varicella-zoster virus (chickenpox), tuberculosis, dengue, Japanese encephalitis, neurocysticercosis, and subacute sclerosing panencephalitis
Certain medications, such as typical antipsychotics (haloperidol, fluphenazine, and pimozide), which can cause tardive dystonia (repetitive or patterned twisting or tremulous movements)
Other medications that can cause dystonias include antidepressants (sertraline, citalopram, duloxetine, paroxetine, and mirtazapine) and antiemetics (metoclopramide).

What deficiency causes dystonia?

There are case reports of vitamin E deficiency causing dystonia. Your doctor may recommend vitamin E supplementation if you have low levels of this vitamin, which is an antioxidant and plays a role in neurological function.

How is dystonia diagnosed?

There are no dystonia tests that can be used to definitively diagnose dystonia. Your healthcare provider will rely on your symptoms, medical history, neurological exam, and imaging test results for diagnosing dystonia and identifying the cause of your movement disorders. If you have a family history of dystonia, genetic testing is the only way to find an abnormal gene and confirm a diagnosis of primary dystonia due to gene mutations.

What is the treatment for dystonia?

Dystonia cannot be prevented, slowed down, or cured. However, it is possible to have dystonia treated to reduce muscle spasms and relieve neurological symptoms. Treatment options include:

Botulinum toxin injections to temporarily paralyze the affected muscles.
Speech therapy and physical therapy.
Medications such as anticholinergics (benztropine, trihexyphenidyl), dopaminergic agents (levodopa), and GABAergic agents (lorazepam, diazepam, clonazepam) are used off-label to treat involuntary muscle spasms and other neurological symptoms associated with dystonia and can result in significant symptom reduction.
Deep brain stimulation (DBS) involves surgically implanting small electrodes to interrupt nerve signals and treat dystonia.
Surgical treatment such as anterior cervical rhizotomy, selective peripheral nerve denervation, thalamotomy, and pallidotomy to interrupt nerve pathways and relieve symptoms of dystonia.